ClinVar Miner

Submissions for variant NM_001012502.3(CFAP157):c.1231A>C (p.Thr411Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005321777 SCV005986573 uncertain significance not specified 2025-01-17 criteria provided, single submitter clinical testing The c.1231A>C (p.T411P) alteration is located in exon 7 (coding exon 7) of the CFAP157 gene. This alteration results from a A to C substitution at nucleotide position 1231, causing the threonine (T) at amino acid position 411 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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